| Main clinical features
|
characterized by a non-progressive eye movement disorder with variable expression of bilateral ptosis and restrictive external ophthalmoplegia potentially resulting from a developmental absence of the superior division of the oculomotor nerve
asymmetrical, variably penetrant congenital cranial dysinnervation disorder leading to secondary extraocular muscles atrophy (Demer 2010)
associated with developmental delay, corpus callosum agenesis, and basal ganglia dysmorphisms in any cases (Tischfield 2010)
asymmetrical blepharoptosis, limited vertical duction, variable ophthalmoplegia, exotropia, and paradoxical abduction in infraduction (PMID: 20393110))
MRI demonstrated variable, asymmetrical levator palpebrae superioris and superior rectus EOM atrophy that correlated with blepharoptosis, deficient supraduction, and small orbital motor nerve (PMID: 20393110))
variable hypoplasia that correlated with duction deficit, ophthalmoplegia occurred only when the subarachnoid width of CN3 was <1.9 mm (PMID: 20393110)) |